Disease relevance of CELSR1

• PURPOSE: Linkage disequilibrium mapping revealed allelic and haplotypic associations between single-nucleotide polymorphisms (SNPs) of the gene encoding the malic enzyme 2 (ME2) and adolescent-onset idiopathic generalized epilepsy (IGE) [1].
• The K+ content and the K+ flux were measured in the cell lines ME2 and MF2 isolated from plasmocytoma MOPC 173 [2].

Psychiatry related information on CELSR1

• No variant exclusively co-segregates with the disease in the large pedigree, providing evidence that CELSR1 is not causative for the pathogenesis of catatonic schizophrenia in this family [3].
• Mom empowerment, too! (ME2): a program for young mothers involved in substance abuse [4].

High impact information on CELSR1

• CONCLUSIONS: These results do not support previous evidence that genetic variation of the ME2 gene predisposes to common IGE syndromes [1].
• RESULTS: Neither allele nor genotype frequencies of any ME2 polymorphism differed significantly between the controls and the IGE groups (p > 0.22) [1].
• A haplotype in the Malic Enzyme 2 gene, ME2, increases the risk for IGE in the homozygous state [5].
• Genotyping was performed for six SNPs and one dinucleotide repeat polymorphism, all located in the ME2 region [1].
• This technology was made by 10 parts of mannitol and 1 part of ME2 with about 6 microm in average particle size [6].

Biological context of CELSR1

• A total of 17 allelic variants of CELSR1 was found by sequencing all 35 exons, intron-exon junctions, and the putative promoter region by screening two patients from a large family mainly supporting this locus, and three control subjects in a first step [3].
• The cadherin gene CELSR1 is specifically expressed in the brain and located on chromosome 22q13.33, a region that has recently been shown to be involved in the etiopathogenesis of familial catatonic schizophrenia [3].
• Leukocyte malic enzyme-2 (ME2) phenotypes were studied in 313 blood samples from unselected subjects and in 241 human brain tissue samples (postmortem examinations) from the northern part of the GDR [7].
• In ME2 cells, no modification of the exchange movement was observed during contact inhibition [2].

Associations of CELSR1 with chemical compounds

• Subsequent evaluation in two tumor models indicated that [125I]V beta ME2 also possessed the highest tumor uptake and selectivity in the adult female rats bearing the estrogen responsive 9,10-dimethyl-1,2-benzanthracene(DMBA)-induced mammary tumors and that this was receptor mediated [8].
• In normal adult female rats, the iodovinyl analogs of moxestrol (IV beta ME2), and moxestrol-3-O methyl ether (IV beta ME2-3-OMe) demonstrated high uterine uptake (0.296-0.437 and 0.135-0.199%ID-kg/g) and selectivity (10-18:1) over the 6 h time period [8].

Other interactions of CELSR1

• Human CELSR1, CELSR2 and CELSR3 are Stan homologs [9].

References